Challenges in the genetic analysis of a possible case of canine X-linked ectodermal dysplasia

In the present report, we describe targeted next-generation sequencing of the EDA gene of a male poodle with a clinical and histopathological diagnosis of X-linked hypohidrotic ectodermal dysplasia. The result was compared with the reference sequence and with the result of the sequencing of a normal dog's EDA gene. No point variant, small deletion or insertion were found in the exons and splice sites, but a transition and a transversion were found in the intron 6 ' and 3 ' UTR, respectively. The cause of the dysplasia of the affected dog in this study is neither a point variant nor a small deletion or insertion in the exons and splice sites of the EDA gene. Therefore, patients with phenotype of XLHED may have other types of variants in the EDA gene or variants in other genes of the EDA signalling pathway.

Automated summary

Through targeted next-generation sequencing of the EDA gene in a male poodle with X-linked hypohidrotic ectodermal dysplasia, it was found that the cause of the dysplasia is not point variants, small deletions, or insertions in the exons and splice sites of the gene. Patients with XLHED phenotype may have other types of variants in the EDA gene or in other genes of the EDA signaling pathway.